title: Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome.
abstract: A 5 1/2-year-old Sephardic Jewish girl, born of consanguineous parents, is described. She has short stature, microcephaly, conductive hearing loss, skin mastocytosis and microtia. Since this constellation of findings has not been reported previously, we think that these findings represent a new congenital malformation, most probably of genetic etiology.
authors.affiliation: Pediatric Department, Meir General Hospital, Sapir Medical Center, Kfar Saba, Israel.
authors.forename: B
authors.initials: B
authors.lastname: Wolach
authors.forename: A
authors.initials: A
authors.lastname: Raas-Rothschild
authors.forename: A
authors.initials: A
authors.lastname: Metzker
authors.forename: L
authors.initials: L
authors.lastname: Choc
authors.forename: R
authors.initials: R
authors.lastname: Straussberg
authors.forename: S
authors.initials: S
authors.lastname: Lew
authors.forename: R M
authors.initials: RM
authors.lastname: Goodman
mesh_terms: D001827:Body Height / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D034381:Hearing Loss / Q000175:diagnosis*; D006314:Hearing Loss, Conductive / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008415:Mastocytosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D013577:Syndrome